Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885

2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803

2004
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation UNIPROT Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. 11220745

2001
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation UNIPROT A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000